Results 91 to 100 of about 1,523 (155)

Hypophosphatasia: Phenotypic Variability and Possible Croatian Origin of the c.1402G>A Mutation of TNSALP Gene [PDF]

, 2009
Hypophosphatasia is a metabolic bone disease characterized by bone and teeth hypomineralization due to defective function of tissue-nonspecific alkaline phosphatase (TNSALP).
Mornet, Etienne, Begović, Davor, Ivo Bari}, Sarnavka, Vladimir, Davor Begovi}, Barić, Ivo, Danijela Petkovi}, Stipoljev, Feodora, Ksenija Fumi}, Petković Ramadža, Danijela, Ramad `, Potočki, Kristina, Fumić, Ksenija, Feodora Stipoljev, Etienne Mornet, Vladimir Sarnavka, Kristina Poto~ki   +16 more
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Establishment of human periodontal ligament cell lines with ALPL mutations to mimic dental aspects of hypophosphatasia

Frontiers in Cell and Developmental Biology
IntroductionBesides skeletal symptoms, dental abnormalities are a typical feature of the rare inherited disorder hypophosphatasia (HPP), which is caused by loss of function mutations in the ALPL gene (alkaline phosphatase, biomineralization associated ...
Jana Schiffmaier, Jana Schiffmaier, Sofia Rehling, Sofia Rehling, Katharina Marnet, Katharina Marnet, Angela Borst, Drenka Trivanović, Drenka Trivanović, Drenka Trivanović, Denitsa Docheva, Franz Jakob, Stephanie Graser, Marietta Herrmann, Daniel Liedtke   +14 more
doaj   +1 more source

Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort

Frontiers in Genetics
IntroductionHypophosphatasia (HPP) is a rare inherited metabolic disease caused by mutations in the ALPL gene. The disease is heterogeneous, complicating its diagnosis and delaying optimal management, leading to severe or lethal outcomes such as failure ...
Afaf Alsagheir, Ali Mcrabi, Meshari Alquayt, Raghad Alhuthil, Afnan Alawi, Eissa Faqeih, Abrar Turki Alabdullatif, Doua Al Homyani, Amal AlJohany, Mariam AlOtaibi, Magdy Rabea, Hassan AlSayed, Mohamed H. Al-Hamed   +12 more
doaj   +1 more source

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia

, 2001
Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity.
Temple, I.K., Muller, F., Serre, J.L., Mouchard, M., Simon-Bouy, B., Gaillard, D., Sillence, D., Viot, G., Myhre, A.G., Kortge-Jung, S., Robin, B., Malou, E., Mornet, E., Bera-Louville, A., Eckhardt, J., Bonduelle, M., Larget-Piet, L., Taillandier, A., Lia-Baldini, A.S.   +18 more
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Intrafamilial phenotypic variability in hypophosphatasia: evidence from two families and the literature

Frontiers in Endocrinology
BackgroundHypophosphatasia (HPP) is a genetic disorder caused by pathogenic mutations in the ALPL gene, resulting in reduced activity of the tissue-nonspecific alkaline phosphatase enzyme.
Elisa Sala, Ruggero Lanzafame, Ruggero Lanzafame, Katia Maruca, Stefano Mora, Marco Pitea   +5 more
doaj   +1 more source

Severe cleidocranial dysplasia can mimic hypophosphatasia

, 2002
Cleidocranial dysplasia (OMIM 119600) is a skeletal dysplasia caused by mutations in the bone/cartilage specific osteoblast transcription factor RUNX2 gene.
Cole, D., Blaser, S., Unger, S., Mundlos, S., Mornet, E.   +4 more
core  

New Empirical Bayes Models to Jointly Analyze Multiple RNA-Sequencing Data in a Hypophosphatasia Disease Study

Hypophosphatasia is a rare inherited metabolic disorder caused by the deficiency of tissue-nonspecific alkaline phosphatase. More severe and early onset cases present symptoms of muscle weakness, diminished motor coordination, and epileptic seizures ...
Zhi Zhang, Jian Hu, Dawson Kinsman, Gengxin Li   +3 more
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Iatrogenic Pan-Craniosynostosis Due to Alkaline Phosphatase Enzyme Replacement Therapy Using Asfotase Alfa for Hypophosphatasia

Journal of Plastic and Reconstructive Surgery
Hypophosphatasia is a relatively rare congenital bone metabolic disease, occurring in approximately 1 in 100,000 to 150,000 births. It is diagnosed in infancy by low bone calcification, rickets-like symptoms visible on X-ray, and decreased serum alkaline
Shigeo Kyutoku
doaj  

Infantile Hypophosphatasia

Annals of Saudi Medicine, 1999
A C, Biswas, R A, Al Khlaif, M, Maleque Molla   +2 more
openaire   +2 more sources

The role of radiography in the diagnosis of different forms of hypophosphatasia: a clinical case

Hypophosphatasia is a rare metabolic disorder characterized by mutations in the  ALPL gene and reduced activity of tissue-nonspecific alkaline phosphatase, leading to impaired mineralization of
L. G. Konstantinova, S. S. Sedova, E. Yu. Gurkina, I. V. Basek, E. V. Gorbunova   +4 more
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